Corneal ulcer in a young child with autosomal recessive epidermolysis bullosa

Area of Science:

• Ophthalmology
• Genodermatoses
• Pediatric Ophthalmology

Background:

• Epidermolysis bullosa (EB) is a rare group of inherited connective tissue disorders characterized by extreme skin fragility.
• Ocular manifestations in EB are typically associated with severe cutaneous disease and advanced age.
• The spectrum of ocular involvement in EB can range from cicatricial eyelid changes to corneal complications.

Observation:

• An 18-month-old boy presented with a diagnosis of epidermolysis bullosa.
• The patient exhibited relatively mild dermatologic findings associated with his EB.
• Despite mild skin symptoms, the child developed significant ocular complications.

Findings:

• The patient developed corneal ulceration, a serious ocular manifestation.
• Scarring of the cornea was also observed, potentially impacting vision.
• This case indicates that severe ocular issues can arise in EB patients with less severe skin involvement.

Implications:

• Ophthalmologists should consider ocular surveillance in all pediatric patients with epidermolysis bullosa, regardless of skin severity.
• Early detection and management of corneal complications in EB are crucial to prevent vision loss.
• This case underscores the variability of epidermolysis bullosa presentation and the need for a comprehensive approach to patient care.